A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509371



Internal ID15825397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:123470645..123534537hg38UCSC Ensembl
Outerchr10:125230161..125294053hg19UCSC Ensembl
Outerchr10:125220151..125284043hg18UCSC Ensembl
Outerchr10:125220151..125284043hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383254
hg193254
hg183254
hg173254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623790
SamplesNA18994
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509371
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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